Ho–Kaufman–Mcalister syndrome is a rare
congenital malformation syndrome where infants are born with a
cleft palate,
micrognathia
Micrognathism is a condition where the jaw is undersized. It is also sometimes called mandibular hypoplasia. It is common in infants, but is usually self-corrected during growth, due to the jaws' increasing in size. It may be a cause of abnorm ...
,
Wormian bones
Wormian bones, also known as intrasutural bones or sutural bones, are extra bone pieces that can occur within a suture (joint) in the skull. These are irregular isolated bones that can appear in addition to the usual centres of ossification of the ...
,
congenital heart disease, dislocated
hips, bowed
fibulae, preaxial
polydactyly of the feet, abnormal skin patterns, and most prominently, missing
tibia. The
etiology
Etiology (pronounced ; alternatively: aetiology or ætiology) is the study of causation or origination. The word is derived from the Greek (''aitiología'') "giving a reason for" (, ''aitía'', "cause"); and ('' -logía''). More completely, e ...
is unknown. Ho–Kaufman–Mcalister syndrome is named after
Chen-Kung Ho,
R.L. Kaufman, and
W.H. Mcalister who first described the syndrome in 1975 at
Washington University in St. Louis. It is considered a
rare disease by the
Office of Rare Diseases (ORD) of the
National Institutes of Health (NIH).
ReferencesHo–Kaufman–Mcalister Syndrome Summary at PubMed
Ho CK, Kaufman RL, Mcalister WH (1975). "Congenital Malformations: Cleft Palate, Congenital Heart Disease, Absent Tibiae, and Polydactyly." ''American Journal of Diseases of Children'' 1975 Jun. 129(6):714–6.
Congenital disorders
Syndromes
Syndromes affecting the heart
Syndromes affecting the jaw
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